Varaico: Literature-Extracted Genetic Variants

KCNH2

2,373 papers

RefSeq Summary

This gene encodes a component of a voltage-activated potassium channel found in cardiac muscle, nerve cells, and microglia. Four copies of this protein interact with one copy of the KCNE2 protein to f...

Pfam Domains

PAS_9aa 29–130UCSCPAS domain

Ion_transaa 407–671UCSCIon transport protein

cNMP_bindingaa 760–845UCSCCyclic nucleotide-binding domain

Gene Aliases

HGNC Name

potassium voltage-gated channel subfamily H member 2

HGNC Previous Symbol

LQT2

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

2 papers

NM_000238.4

p.A504D

c.1511C>A

Surrounding Variants

3 papers

NM_000238.4

p.A504V

c.1511C>T

1 paper

NM_000238.4

p.A504G

c.1511C>G

1 paper

NM_000238.4

p.A504S

c.1510G>T

1 paper

NM_000238.4

p.A504P

c.1510G>C

1 paper

NM_000238.4

p.A504T

c.1510G>A

1 paper

NM_000238.4

p.A505S

c.1513G>T

1 paper

NM_000238.4

p.A505P

c.1513G>C

4 papers

NM_000238.4

p.A505T

c.1513G>A

1 paper

NM_000238.4

p.V503G

c.1508T>G

1 paper

NM_000238.4

p.V503A

c.1508T>C

1 paper

NM_000238.4

p.V503E

c.1508T>A

1 paper

NM_000238.4

p.A505V

c.1514C>T